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中国汉族人口腔鳞状细胞癌中 ERCC1 的表达与遗传多态性。

Expression and Genetic Polymorphisms of ERCC1 in Chinese Han Patients with Oral Squamous Cell Carcinoma.

机构信息

The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Lab of Ophthalmology, Chongqing Eye Institute, Chongqing, China.

Stomatological Hospital of Chongqing Medical University, Chongqing, China.

出版信息

Biomed Res Int. 2020 Sep 26;2020:1207809. doi: 10.1155/2020/1207809. eCollection 2020.

Abstract

The aim of this study was to investigate the expression of the excision repair cross-complementation group 1 (ERCC1) in oral squamous cell carcinoma (OSCC) and the possible association of ERCC1 polymorphisms with susceptibility and response to chemotherapy of OSCC in a Chinese Han population. The expression of ERCC1 was determined by real-time PCR in eight patients. Four single-nucleotide polymorphisms (SNPs) rs11615, rs3212948, rs3212961, and rs735482 of ERCC1 were genotyped in 113 OSCC patients and 184 healthy controls using a PCR restriction matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF MS) assay. We found that a higher gene expression of ERCC1 was observed in tumor tissue as compared to pericarcinomatous tissue in OSCC patients. All genotypic and allelic frequencies of the tested ERCC1 polymorphisms were in Hardy-Weinberg equilibrium. The genotypic and allelic frequencies of rs11615, rs3212948, rs3212961, and rs735482 of ERCC1 were not different between OSCC patients and controls. No correlation was observed between ERCC1 polymorphisms and the response to chemotherapy. Our results show that ERCC1 is increased in the tumor tissue of OSCC patients. The investigated ERCC1 gene polymorphisms (rs11615, rs3212948, rs3212961, and rs735482) are not associated with the susceptibility and response to chemotherapy of OSCC in our investigated Chinese Han population.

摘要

本研究旨在探讨切除修复交叉互补基因 1(ERCC1)在口腔鳞状细胞癌(OSCC)中的表达,以及 ERCC1 多态性与中国汉族人群 OSCC 易感性和化疗反应的可能相关性。通过实时 PCR 测定了 8 例患者 ERCC1 的表达。采用 PCR 限制基质辅助激光解吸/电离飞行时间质谱(MALDI-TOF MS)分析,对 113 例 OSCC 患者和 184 例健康对照者的 ERCC1 四个单核苷酸多态性(SNP)rs11615、rs3212948、rs3212961 和 rs735482 进行基因分型。我们发现,与 OSCC 患者癌旁组织相比,肿瘤组织中 ERCC1 的基因表达较高。所检测的 ERCC1 多态性的所有基因型和等位基因频率均符合 Hardy-Weinberg 平衡。ERCC1 rs11615、rs3212948、rs3212961 和 rs735482 的基因型和等位基因频率在 OSCC 患者和对照组之间无差异。ERCC1 多态性与化疗反应之间无相关性。我们的结果表明,ERCC1 在 OSCC 患者的肿瘤组织中增加。在所研究的中国汉族人群中,所研究的 ERCC1 基因多态性(rs11615、rs3212948、rs3212961 和 rs735482)与 OSCC 的易感性和化疗反应无关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a95/7537678/1aa347177cbb/BMRI2020-1207809.001.jpg

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